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Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells.
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- Chromosome Research, 2022, v. 30, n. 4, p. 459, doi. 10.1007/s10577-022-09700-w
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- Article
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
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- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0191228
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- Article
Novel Variants in ATM Causing Mild Ataxia‐Telangiectasia: From Benchside to Bedside and Back Again.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 727, doi. 10.1002/mdc3.13013
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- Article
A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 3, p. 332, doi. 10.1002/mdc3.12920
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- Article
The odyssey of complex neurogenetic disorders: From undetermined to positive.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 876, doi. 10.1002/ajmg.c.31848
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- Article
Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1074, doi. 10.1002/ajmg.a.61135
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- Article